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Dec 2, 2016 · Type 1 VWD. This is the most prevalent VWD type in most populations, with proportions of patients up to 70% in some studies. VWD1 patients have VWF antigen (VWF:Ag) and VWF activity assays with an activity/antigen ratio >0.7 and normal VWF multimers.
- Anne Goodeve
- 2016
- Study Population
- Vwdi Genotyping Results
- Bleeding Tendencies
- VWF Serum Concentration
87 Kromfohrländer composed of 62% females and 38% males including purebred Kromfohrländer, as well as F1, F2 and F3 so called project dogs from outcross matings with Dansk-Svensk Gårdshund (Danish–Swedish Farmdog) as part of the outcross program in the ProKromfohrländer e. V. Germany were included in this study. Of all study dogs 73.5% were purebre...
For genetic testing, study dogs were categorized in three different groups, wild-type (WT/WT), heterozygous (WT/MUT) and homozygous (MUT/MUT) for the vWDI mutation. Based on the genotyping data for the G > A transversion in the last nucleotide of exon 43 coding for von Willebrand factor (Fig. 2), 19.5% were wild-type (WT/WT), 65.5% were heterozygou...
Information on bleeding tendencies was based on owner questionnaires which were provided for all study dogs with an exception of 3 dogs. Questions were primarily related to preceding surgeries or prolonged bleeding times for example during second dentition, heat, birth, implantations for chemical castration, injuries, or prolonged bleeding time aft...
In addition to the genetic status of vWDI, von Willebrand factor serum levels were determined during health monitoring and results were forwarded by ProKromfohrländer e.V. or by dog owners or breeders to our laboratory. vWF serum levels were available from 64 dogs out of 87. The vWDI concentration in wild-type dogs (WT/WT) ranged from 28 to 137%. F...
- Julia H. Segert, Jana-Marie Seidel, Walter J. Wurzer, Anja M. Geretschlaeger
- 2019
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Are Kromfohrländer dogs heterozygous for von Willebrand type I mutation?
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Aug 10, 2006 · We present data from the sequence analysis of the VWF gene in 123 type 1 VWD index cases and their families. We have identified putative mutations within the VWF gene in 63% (n = 78) of index cases, leaving 37% (n = 45) with no identified changes.
- Paula D. James, Colleen Notley, Carol Hegadorn, Jayne Leggo, Angie Tuttle, Shawn Tinlin, Christine B...
- 2007
Nov 15, 2013 · One mechanism causing type 1 VWD is the reduced survival of VWF in plasma (type 1C VWD), characterized by markedly decreased VWF:Ag and VWF half-life, essentially normal multimers, increased ratio of VWF propeptide (VWFpp) to VWF:Ag, robust response to DDAVP, and normal ratios of VWF:CB, FVIII, or VWF:RCo to VWF:Ag.
- Sandra L. Haberichter, David A Jakab, Paula M. Jacobi
- 2013
Type 1 von Willebrand disease (VWD) is the most common form of VWD which is in turn the most common inherited bleeding disorder ( 1 ). Unlike other coagulation factor deficiencies, however, VWD is notoriously hard to diagnose, and type 1 VWD is the most challenging group.
- Veronica H. Flood, Jessica Garcia, Sandra L. Haberichter, Sandra L. Haberichter
- 10.1097/MOH.0000000000000524
- 2019
- 2019/09
Dec 5, 2012 · Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins. Blood. 2001; 98 :2973–2979.
May 16, 2019 · Furthermore, establish a possible link between bleeding phenotype, vWF serum concentrations and VWF mutation status. Results: Eighty-seven Kromfohrländer were genotyped for the G > A von Willebrand type I mutation. For detection of the associated mutation we used an endpoint genotyping method.
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